Titre du document / Document title

An mtDNA analysis in ancient Basque populations : Implications for haplogroup V as a marker for a major Paleolithic expansion from southwestern Europe

Auteur(s) / Author(s)

LZAGIRRE N. ⁽¹⁾ ; DE LA RUA C. ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Euskal Herriko Unibertsitatea, Animali Biologia eta Genetika Saila, Zientzi Fakultatea, Bilbao, ESPAGNE

Résumé / Abstract

mtDNA sequence variation was studied in 121 dental samples from four Basque prehistoric sites, by high-resolution RFLP analysis. The results of this study are corroborated by (1) parallel analysis of 92 bone samples, (2) the use of controls during extraction and amplification, and (3) typing by both positive and negative restriction of the linked sites that characterize each haplogroup. The absence of haplogroup V in the prehistoric samples analyzed conflicts with the hypothesis proposed by Torroni et al., in which haplogroup V is considered as an mtDNA marker for a major Paleolithic population expansion from southwestern Europe, occurring ∼10,000-15,000 years before the present (YBP). Our samples from the Basque Country provide a valuable tool for checking the previous hypothesis, which is based on genetic data from present-day populations. In light of the available data, the most realistic scenario to explain the origin and distribution of haplogroup V suggests that the mutation defining that haplogroup (4577 NlaIII) appeared at a time when the effective population size was small enough to allow genetic drift to act-and that such drift is responsible for the heterogeneity observed in Basques, with regard to the frequency of haplogroup V (0%-20%). This is compatible with the attributed date for the origin of that mutation (10,000-15,000 YBP), because during the postglacial period (the Mesolithic, ∼11,000 YBP) there was a major demographic change in the Basque Country, which minimized the effect of genetic drift. This interpretation does not rely on migratory movements to explain the distribution of haplogroup V in present-day Indo-European populations.

Revue / Journal Title

American journal of human genetics   ISSN 0002-9297   CODEN AJHGAG 

Source / Source

1999, vol. 65, n^o1, pp. 199-207 (1 p.1/2)

Langue / Language

Anglais

Editeur / Publisher

University of Chicago Press, Chicago, IL, ETATS-UNIS  (1949) (Revue)

Mots-clés anglais / English Keywords

Population genetics ; Mitochondrial DNA ; Spain ; Human ; Prehistory ; Restriction fragment length polymorphism ; Haplotype ; Paleoanthropology ; Genetic marker ; Europe ;

Mots-clés français / French Keywords

Génétique population ; DNA mitochondrial ; Espagne ; Homme ; Epoque préhistorique ; Polymorphisme longueur fragment restriction ; Haplotype ; Paléoanthropologie ; Marqueur génétique ; Basque ; Haplogroupe V ; Europe ;

Mots-clés espagnols / Spanish Keywords

Genética población ; DNA mitocondrial ; España ; Hombre ; Epoca prehistórica ; Polimorfismo longitud fragmento restricción ; Haplotipo ; Paleoantropología ; Marcador genético ; Europa ;

Localisation / Location

INIST-CNRS, Cote INIST : 2610, 35400008561343.0250